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Case Reports
. 2007 May;119(5):e1199-202.
doi: 10.1542/peds.2006-2886.

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period

Anji T Yetman  1 , Rebecca S Beroukhim, Dunbar D Ivy, David Manchester
Affiliations
Case Reports

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period

Anji T Yetman et al. Pediatrics. 2007 May.

Abstract

We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.

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